ClinGen Allele Registry
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Canonical Allele Identifier:
PA645397559
Gene: COL17A1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000249875
RCV000390866
RCV001589235
RCV001610576
ClinVar Variation:
256267
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000485.3:p.Met703Val
CA5678696
NM_000494.4:c.2107A>G